Canonical Allele Identifier: CA479805106

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1148292
• ClinVar RCV Id: RCV001488138
• dbSNP Id: rs1188042599
• gnomAD v2: 12-52307491-C-T
• gnomAD v4: 12-51913707-C-T
• MyVariant Identifiers: chr12:g.52307491C>T (hg19) ; chr12:g.51913707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913707C>T , CM000674.2:g.51913707C>T	GRCh38
NC_000012.11:g.52307491C>T , CM000674.1:g.52307491C>T	GRCh37
NC_000012.10:g.50593758C>T	NCBI36
NG_009549.1:g.11290C>T , LRG_543:g.11290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+357C>T	ENSP00000446724.2:n.355+357C>T
ENST00000551576.6:c.462C>T	ENSP00000455848.2:p.His154=
ENST00000552678.2:c.462C>T	ENSP00000457394.2:p.His154=
ENST00000388922.9:c.462C>T MANE Select	ENSP00000373574.4:p.His154=
ENST00000388922.8:c.462C>T	ENSP00000373574.4:p.His154=
ENST00000419526.6:c.104-732C>T	ENSP00000392492.2:n.104-732C>T
ENST00000547400.5:c.355+357C>T	ENSP00000446724.1:n.355+357C>T
ENST00000550683.5:c.504C>T	ENSP00000447884.1:p.His168=
NM_000020.2:c.462C>T , LRG_543t1:c.462C>T	NP_000011.2:p.His154=
NM_001077401.1:c.462C>T	NP_001070869.1:p.His154=
XM_005269235.2:c.462C>T	XP_005269292.1:p.His154=
XM_011539008.1:c.355+357C>T	XP_011537310.1:n.355+357C>T
XM_024449279.1:c.-228C>T	XP_024305047.1:n.-228C>T
NM_000020.3:c.462C>T MANE Select	NP_000011.2:p.His154=
NM_001077401.2:c.462C>T	NP_001070869.1:p.His154=